Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report

Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGU...

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Detalles Bibliográficos
Autores principales: Shakiba, Marjan, Mahjoub, Fatemeh, Fazilaty, Hassan, Rezagholizadeh, Fereshteh, Shakiba, Arghavan, Ziadlou, Maryam, Gahl, William A., Behnam, Babak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975537/
https://www.ncbi.nlm.nih.gov/pubmed/27500280
http://dx.doi.org/10.12715/ard.2014.3.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975537/
https://www.ncbi.nlm.nih.gov/pubmed/27500280
http://dx.doi.org/10.12715/ard.2014.3.2

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